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Genodermatoses
Results: 645

#	Item
21	Microsoft Word - TranslatorApp6 7 10 Add to Reading List Source URL: www.progeriaresearch.org Language: English - Date: 2014-11-25 11:14:57 Progeria Technology Health Medicine Fax Aging Genodermatoses Gerontology
22	Noonan Syndrome First description The first description of Noonan syndrome (NS) dates back to 1883, when a student named Kobylinski reported on a male patient with several phenotypical characteristics. In 1963, paediatri Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:58:07 Genetic genealogy Medical genetics Noonan syndrome Turner syndrome PTPN11 LEOPARD syndrome Webbed neck Costello syndrome SOS1 Health Genodermatoses Syndromes
23	HOLE SPONSORS 4TH ANNUAL CHARITY Add to Reading List Source URL: www.pachyonychia.org Language: English - Date: 2015-02-09 15:19:08 Health Medicine Genodermatoses Pachyonychia congenita Zions Bank
24	Prader Willi_Poster_larger size.ai Add to Reading List Source URL: www.pwsnetwork.ca Language: English - Date: 2011-02-25 11:51:51 Syndromes Psychological resilience Social connectedness Parenting Social capital Sociology Economics Health Genodermatoses Prader–Willi syndrome
25	Angelman Syndrome Alternative names Although the term ‘happy puppet syndrome’, proposed by Bower and Jeavons in 1967 was widely used until the early 1990’s, the eponym ‘Angelman’ syndrome is generally preferred Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:34:24 Syndromes Genodermatoses Neurological disorders Genes Cytogenetics Angelman syndrome UBE3A Chromosome 15 Prader–Willi syndrome Genetics Health Biology
26	IPCC NEWS BRIEF Vol 12, No. 1 Jan-Feb-Mar 2015 Add to Reading List Source URL: pachyonychia.org Language: English - Date: 2015-03-02 11:23:13 Pachyonychia congenita Keratin Intergovernmental Panel on Climate Change Health Keratins Biology Genodermatoses
27	Neurofibromatosis Type 1 (NF1) Genetics Autosomal dominant. Gene localised to 17q11.2. The gene product (neurofibromin) is thought to suppress tumour formation by regulating cell division. A high spontaneous mutation rat Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:34:05 Neuro-cardio-facial-cutaneous syndromes Biology Neurofibromatosis type I Neurofibromatosis Neurofibroma NF1 Neurofibromin 1 Lisch nodule Café au lait spot Medicine Genodermatoses Health
28	Wolf-Hirschhorn Syndrome Wolf-Hirschhorn syndrome [WHS] is a congenital malformation first described by Wolf et al. and Hirschhorn et al. in 1965, independently of one another. It is produced by the loss of genomic mater Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:34:21 Autism Genodermatoses Wolf–Hirschhorn syndrome Neurological disorders Pervasive developmental disorders Autism spectrum Hirschhorn Health Syndromes Medicine
29	PDF Document Add to Reading List Source URL: eimagery.crcpress.com Language: English - Date: 2015-05-13 10:23:56 Syndromes Congenital disorders Growth disorders Genodermatoses Proteus syndrome Beckwith–Wiedemann syndrome Overgrowth syndrome Hemihyperplasia–multiple lipomatosis syndrome Klippel–Trénaunay–Weber syndrome Health Medicine Rare diseases
30	Tuberous Sclerosis Complex (TSC) First description and alternative names Even though earlier cases exist, the first detailed description of the disorder was by Désiré-Magloire Bourneville, a French Physician, in 1880 w Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:34:14 Genodermatoses Tuberous sclerosis Autism TSC1 Pervasive developmental disorders Angiomyolipoma Epilepsy Sirolimus TSC2 Medicine Health Psychiatry

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